Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the anterior pituitary (HP:0011747)

Parent Node:
Anterior pituitary dysgenesis (HP:0010625)

..Starting node
..Anterior pituitary hypoplasia (HP:0010627)

Term ID:

10627

Name:

Anterior pituitary hypoplasia

Synonym:

Hypoplasia of the pituitary gland; Underdeveloped pituitary gland

Definition:

Underdevelopment of the anterior pituitary gland.

Comments:

Reference:

HP:0010627

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior pituitary agenesis (HP:0010626)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040283 - Occasional	3
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	172
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4		44
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	21
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	HESX1 CL E G H	8820	4877	OMIM:182230	Septooptic dysplasia	.	21
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.	51
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	183
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	41
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	34
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent	37
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	33
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040282 - Frequent	24
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional	24
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional	2
HP:0010627	HP:0010627	Anterior pituitary hypoplasia	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional	5

Genes (30) :ARNT2 CDC42BPB DMXL2 FGFR1 FOXA2 GHRHR GLI2 HESX1 HID1 LHX3 LHX4 MADD MAGEL2 MTHFR NDN NONO OCA2 OTX2 POU1F1 PROKR2 PROP1 RBM28 SIX6 SNRPN SOX2 SOX3 TBX3 TTC26 VANGL2 ZSWIM6

Diseases (27) :ORPHA:3157 OMIM:619841 ORPHA:453533 ORPHA:95494 OMIM:618157 OMIM:615849 OMIM:610829 ORPHA:226307 OMIM:182230 OMIM:619983 OMIM:221750 ORPHA:231720 OMIM:619004 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:563612 ORPHA:466791 OMIM:613038 ORPHA:90695 ORPHA:157954 OMIM:206900 ORPHA:177907 ORPHA:67045 OMIM:181450 OMIM:619534 ORPHA:1827

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen