Kallmann syndrome

No Pathway Network information available for Kallmann syndrome

Pathways in the Kallmann syndrome SuperPath

#	Name	Source	Genes
1	Kallmann syndrome	WikiPathways	AKT1 ANOS1 ASCL1 CHD7 FGF8 FGFR1 FRS2 GRB2 LHB MAP2K2 MAPK1 MYRF OLIG2 OTX2 PIK3CA PROK2 PROKR2 PTPN11 SEMA3E SOX10 TMEM98 (see all 21) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	LHB	Luteinizing Hormone Subunit Beta	Protein Coding	1
2	SEMA3E	Semaphorin 3E	Protein Coding	1
3	MYRF	Myelin Regulatory Factor	Protein Coding	1
4	SOX10	SRY-Box Transcription Factor 10	Protein Coding	1
5	PROK2	Prokineticin 2	Protein Coding	1
6	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
7	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	1
8	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
9	CHD7	Chromodomain Helicase DNA Binding Protein 7	Protein Coding	1
10	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
11	OTX2	Orthodenticle Homeobox 2	Protein Coding	1
12	ASCL1	Achaete-Scute Family BHLH Transcription Factor 1	Protein Coding	1
13	ANOS1	Anosmin 1	Protein Coding	1
14	TMEM98	Transmembrane Protein 98	Protein Coding	1
15	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	1
16	FGF8	Fibroblast Growth Factor 8	Protein Coding	1
17	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
18	PROKR2	Prokineticin Receptor 2	Protein Coding	1
19	FRS2	Fibroblast Growth Factor Receptor Substrate 2	Protein Coding	1
20	OLIG2	Oligodendrocyte Transcription Factor 2	Protein Coding	1
21	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1

Disorders associated with Kallmann syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Kallmann syndrome	Enrichment	ANOS1, CHD7, FGF8, FGFR1, PROK2, PROKR2, SOX10	10.55
2	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	CHD7, FGF8, FGFR1, PROK2, PROKR2	10.24
3	Hypogonadotropic hypogonadism 1 with or without anosmia	Enrichment	ANOS1, PROKR2, SOX10	7.50
4	Hypogonadotropic hypogonadism	Enrichment	ANOS1, FGFR1, PROKR2	6.57
5	Septooptic dysplasia	Enrichment	FGFR1, OTX2, PROKR2	6.16
6	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	ANOS1, FGFR1, PROKR2	5.94
7	Male infertility with spermatogenesis disorder	Enrichment	CHD7, PROK2, PROKR2	5.84
8	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8, PROK2, PROKR2, PTPN11	5.83
9	Rosette-forming glioneuronal tumor	Enrichment	FGFR1, PIK3CA	5.64
10	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1, PROKR2	5.16
11	Hypogonadotropic hypogonadism 5 with or without anosmia	Enrichment	CHD7, SEMA3E	5.16
12	Holoprosencephaly	Enrichment	FGF8, FGFR1	4.64
13	Holoprosencephaly 1	Enrichment	FGF8, FGFR1	4.47
14	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	4.47
15	Charge syndrome	Enrichment	CHD7, SEMA3E	4.09
16	Cowden syndrome	Enrichment	AKT1, PIK3CA	4.09
17	Nanophthalmos	Enrichment	OTX2, TMEM98	3.90
18	Specific learning disability	Enrichment	MAPK1, PTPN11	3.90
19	Meningioma	Enrichment	AKT1, PIK3CA	3.83
20	Noonan syndrome and noonan-related syndrome	Enrichment	MAP2K2, PTPN11	3.63
21	Microform holoprosencephaly	Enrichment	FGF8, FGFR1	3.57
22	Lobar holoprosencephaly	Enrichment	FGF8, FGFR1	3.57
23	Semilobar holoprosencephaly	Enrichment	FGF8, FGFR1	3.46
24	Noonan syndrome 1	Enrichment	MAP2K2, PTPN11	3.25
25	Scoliosis	Enrichment	CHD7, PTPN11	3.21
26	Rasopathy	Enrichment	MAP2K2, PTPN11	3.14
27	Macrodactyly	Enrichment	PIK3CA	2.81
28	Proteus syndrome	Enrichment	AKT1	2.81
29	Osteoglophonic dysplasia	Enrichment	FGFR1	2.81
30	Metachondromatosis	Enrichment	PTPN11	2.81
31	Trigonocephaly 1	Enrichment	FGFR1	2.81
32	Hypogonadotropic hypogonadism 3 with or without anosmia	Enrichment	PROKR2	2.81
33	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.81
34	Leopard syndrome 1	Enrichment	PTPN11	2.81
35	Nanophthalmos 4	Enrichment	TMEM98	2.81
36	Cowden syndrome 5	Enrichment	PIK3CA	2.81
37	Hypogonadotropic hypogonadism 23 with or without anosmia	Enrichment	LHB	2.81
38	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.81
39	Noonan syndrome 13	Enrichment	MAPK1	2.81
40	Nanophthalmos 1	Enrichment	MYRF	2.81
41	Hypogonadotropic hypogonadism 4 with or without anosmia	Enrichment	PROK2	2.81
42	Microphthalmia, syndromic 5	Enrichment	OTX2	2.81
43	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.81
44	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.81
45	Scoliosis, isolated 3	Enrichment	CHD7	2.81
46	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.81
47	Pituitary hormone deficiency, combined, 6	Enrichment	OTX2	2.81
48	Cowden syndrome 6	Enrichment	AKT1	2.81
49	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	2.81
50	Hartsfield syndrome	Enrichment	FGFR1	2.81
51	Cardiac-urogenital syndrome	Enrichment	MYRF	2.81
52	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	Enrichment	MYRF	2.81
53	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.81
54	Hypospadias	Enrichment	PIK3CA	2.81
55	Rare venous malformation	Enrichment	PIK3CA	2.81
56	Diaphragmatic eventration	Enrichment	PIK3CA	2.81
57	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.81
58	Rare combined vascular malformation	Enrichment	PIK3CA	2.81
59	Cavernous lymphangioma	Enrichment	PIK3CA	2.81
60	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.81
61	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	2.81
62	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.81
63	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.81
64	Macrodactyly of toe	Enrichment	PIK3CA	2.81
65	Chd7 disorder	Enrichment	CHD7	2.81
66	Malignant astrocytoma	Enrichment	PTPN11	2.81
67	Hereditary breast carcinoma	Enrichment	AKT1, PIK3CA	2.68
68	Agnathia-otocephaly complex	Enrichment	OTX2	2.51
69	Waardenburg syndrome, type 4c	Enrichment	SOX10	2.51
70	Keratosis, seborrheic	Enrichment	PIK3CA	2.51
71	Pfeiffer syndrome	Enrichment	FGFR1	2.51
72	Jackson-weiss syndrome	Enrichment	FGFR1	2.51
73	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1	2.51
74	Choanal atresia, posterior	Enrichment	CHD7	2.51
75	Noonan syndrome 8	Enrichment	PIK3CA	2.51
76	Werner syndrome	Enrichment	PTPN11	2.51
77	Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	Enrichment	SOX10	2.51
78	Dextrocardia	Enrichment	MYRF	2.51
79	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	2.51
80	Tafro syndrome	Enrichment	MAP2K2	2.51
81	Waardenburg syndrome, type 2a	Enrichment	SOX10	2.33
82	Pompe disease, infantile-onset	Enrichment	PIK3CA	2.33
83	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA	2.33
84	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	2.33
85	Pyloric stenosis	Enrichment	CHD7	2.33
86	Butterfly-shaped pigment dystrophy	Enrichment	OTX2	2.33
87	Tricuspid valve insufficiency	Enrichment	PTPN11	2.33
88	Keratoacanthoma	Enrichment	PIK3CA	2.33
89	Breast cancer	Enrichment	AKT1, PIK3CA	2.23
90	Cardiofaciocutaneous syndrome 1	Enrichment	MAP2K2	2.21
91	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	2.21
92	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA	2.21
93	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	2.21
94	Cardiofaciocutaneous syndrome	Enrichment	MAP2K2	2.21
95	Cerebrovascular disease	Enrichment	PIK3CA	2.21
96	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	PTPN11	2.21
97	Noonan syndrome with multiple lentigines	Enrichment	PTPN11	2.21
98	Familial cerebral cavernous malformations	Enrichment	PIK3CA	2.21
99	Haddad syndrome	Enrichment	ASCL1	2.21
100	Capillary malformations, congenital	Enrichment	PIK3CA	2.11
101	Martsolf syndrome 1	Enrichment	ANOS1	2.11
102	Pseudovaginal perineoscrotal hypospadias	Enrichment	ANOS1	2.11
103	Lymphoma	Enrichment	PTPN11	2.11
104	Hemimegalencephaly	Enrichment	PIK3CA	2.11
105	Primary hypereosinophilic syndrome	Enrichment	FGFR1	2.11
106	Colorectal cancer	Enrichment	AKT1, PIK3CA	2.10
107	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	2.03
108	Cowden syndrome 1	Enrichment	PIK3CA	2.03
109	Hemihyperplasia, isolated	Enrichment	PIK3CA	2.03
110	Waardenburg syndrome, type 4a	Enrichment	SOX10	2.03
111	Anxiety	Enrichment	OTX2	2.03
112	Wiedemann-steiner syndrome	Enrichment	CHD7	2.03
113	3mc syndrome	Enrichment	CHD7	2.03
114	Patent ductus arteriosus	Enrichment	PTPN11	2.03
115	Lung squamous cell carcinoma	Enrichment	PIK3CA	2.03
116	Waardenburg syndrome	Enrichment	SOX10	2.03
117	Ovarian cancer	Enrichment	AKT1, PIK3CA	1.98
118	Nevus, epidermal	Enrichment	PIK3CA	1.97
119	Waardenburg syndrome, type 1	Enrichment	SOX10	1.97
120	Waardenburg syndrome, type 2e	Enrichment	SOX10	1.97
121	Capillary malformation-arteriovenous malformation 1	Enrichment	PIK3CA	1.97
122	Noonan syndrome 3	Enrichment	PTPN11	1.97
123	Gallbladder cancer	Enrichment	PIK3CA	1.97
124	Pilomyxoid astrocytoma	Enrichment	FGFR1	1.97
125	Hypothyroidism	Enrichment	CHD7	1.91
126	Difference of sex development	Enrichment	MYRF	1.91
127	Combined pituitary hormone deficiency	Enrichment	OTX2	1.91
128	Arteriovenous malformation	Enrichment	PIK3CA	1.86
129	Adult hepatocellular carcinoma	Enrichment	PIK3CA	1.86
130	Microcephaly	Enrichment	MAPK1, PTPN11	1.82
131	Cat eye syndrome	Enrichment	CHD7	1.81
132	Omenn syndrome	Enrichment	CHD7	1.81
133	Myopathy, x-linked, with excessive autophagy	Enrichment	PIK3CA	1.81
134	Pectus excavatum	Enrichment	PTPN11	1.77
135	Atrial heart septal defect	Enrichment	CHD7	1.77
136	Lung non-small cell carcinoma	Enrichment	PIK3CA	1.77
137	Interatrial communication	Enrichment	CHD7	1.77
138	Epicanthus	Enrichment	PTPN11	1.73
139	Juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.73
140	Lip and oral cavity carcinoma	Enrichment	PIK3CA	1.73
141	Congenital long qt syndrome	Enrichment	PTPN11	1.73
142	Diaphragmatic hernia, congenital	Enrichment	MYRF	1.70
143	Heart disease	Enrichment	CHD7	1.67
144	Pituitary stalk interruption syndrome	Enrichment	PROKR2	1.67
145	46,xy partial gonadal dysgenesis	Enrichment	OTX2	1.67
146	Myopia	Enrichment	CHD7	1.64
147	Lynch syndrome	Enrichment	PIK3CA	1.64
148	Septopreoptic holoprosencephaly	Enrichment	FGF8	1.64
149	Midline interhemispheric variant of holoprosencephaly	Enrichment	FGF8	1.64
150	Gliosarcoma	Enrichment	FGFR1	1.61
151	Giant cell glioblastoma	Enrichment	FGFR1	1.58
152	Alobar holoprosencephaly	Enrichment	FGF8	1.58
153	Heart, malformation of	Enrichment	MAPK1	1.56
154	Patent foramen ovale	Enrichment	PTPN11	1.56
155	Macs syndrome	Enrichment	OTX2	1.52
156	Cardiomyopathy, dilated, 1a	Enrichment	SEMA3E	1.49
157	Endometrial cancer	Enrichment	PIK3CA	1.49
158	Hepatocellular carcinoma	Enrichment	PIK3CA	1.47
159	Microphthalmia	Enrichment	OTX2	1.47
160	Tooth agenesis	Enrichment	FGFR1	1.47
161	Hydrops fetalis, nonimmune	Enrichment	PTPN11	1.40
162	Strabismus	Enrichment	PTPN11	1.39
163	Bladder cancer	Enrichment	PIK3CA	1.36
164	Hirschsprung disease 1	Enrichment	SOX10	1.36
165	Prostate cancer	Enrichment	PIK3CA	1.36
166	Long qt syndrome 1	Enrichment	PTPN11	1.34
167	Non-immune hydrops fetalis	Enrichment	PTPN11	1.33
168	Lung cancer	Enrichment	PIK3CA	1.31
169	Gastric cancer	Enrichment	PIK3CA	1.19
170	Hypertrophic cardiomyopathy	Enrichment	PTPN11	1.19
171	Thrombocytopenia	Enrichment	PTPN11	1.14
172	Hypertelorism	Enrichment	PIK3CA	1.11
173	Rare genetic deafness	Enrichment	SOX10	0.94
174	Leber plus disease	Enrichment	OTX2	0.86
175	Autism spectrum disorder	Enrichment	PTPN11	0.81
176	Inherited cancer-predisposing syndrome	Enrichment	PTPN11	0.73

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Kallmann syndrome

Pathway Network for Kallmann syndrome

Member Pathways for Kallmann syndrome

Pathways in the Kallmann syndrome SuperPath

Associated Genes for Kallmann syndrome

Associated Disorders for Kallmann syndrome

Disorders associated with Kallmann syndrome SuperPath

STRING Interaction Network for Kallmann syndrome

Sources for Kallmann syndrome