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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Facies (D019066)
Parent Node: Hypothyroidism (D007037)
..Starting node ..Pituitary Hormone Deficiency, Combined, 1 (C567803)
Child Nodes:
Sister Nodes:
..Bamforth syndrome (C537901)
..Congenital Hypothyroidism (D003409) 17
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..Johanson Blizzard syndrome (C535880)
..Jung Wolff Back Stahl syndrome (C537694)
..Myxedema (D009230)
..Pituitary Hormone Deficiency, Combined, 1 (C567803)
..Pituitary Hormone Deficiency, Combined, 4 (C567492)
..Thyroid Dyshormonogenesis 3 (C562769)
..Thyroid Dyshormonogenesis 5 (C562771)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Thyrotropin-Releasing Hormone Resistance, Generalized (C566049)
..Zadik Barak Levin syndrome (C536721)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8961

Name:

Pituitary Hormone Deficiency, Combined, 1

Definition:

Alternative IDs:

OMIM:613038

ParentIDs:

MESH:D000015|MESH:D007037|MESH:D019066

TreeNumbers:

C16.131.077/C567803 |C19.874.482/C567803 |C23.550.291.812/C567803

Synonyms:

CPHD1

Slim Mappings:

Congenital abnormality|Endocrine system disease|Pathology (process)

Reference:

MedGen: C567803
MeSH: C567803
OMIM: 613038;

Genes: POU1F1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000463	Anteverted nares
4	HP:0000490	Deeply set eye
5	HP:0000270	Delayed cranial suture closure
6	HP:0005280	Depressed nasal bridge
7	HP:0002007	Frontal bossing
8	HP:0001290	Generalized hypotonia
9	HP:0000821	Hypothyroidism
10	HP:0001252	Hypotonia
11	HP:0001249	Intellectual disability
12	HP:0000952	Jaundice
13	HP:0000158	Macroglossia
14	HP:0000272	Malar flattening
15	HP:0011800	Midface retrusion
16	HP:0006579	Prolonged neonatal jaundice
17	HP:0011220	Prominent forehead
18	HP:0008850	Severe postnatal growth retardation
19	HP:0003196	Short nose
20	HP:0004322	Short stature

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001122757.2(POU1F1):c.889C>T (p.Arg297Trp)	5449	POU1F1	Pathogenic	104893755	RCV000014573;	N	MedGen:C2751608,OMIM:613038	3	87309109	87309109	NM_001122757.2:c.889C>T	NP_001116229.1:p.Arg297Trp	NC_000003.11:g.87309109G>A	OMIM Allelic Variant:173110.0002	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.853dupA (p.Arg285Lysfs)	5449	POU1F1	Pathogenic	587776799	RCV000014585;	N	MedGen:C2751608,OMIM:613038	3	87309145	87309145	NM_001122757.2:c.853dupA	NP_001116229.1:p.Arg285Lysfs		OMIM Allelic Variant:173110.0014	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.826G>T (p.Glu276Ter)	5449	POU1F1	Pathogenic	104893760	RCV000014577;	N	MedGen:C2751608,OMIM:613038	3	87309172	87309172	NM_001122757.2:c.826G>T	NP_001116229.1:p.Glu276Ter	NC_000003.11:g.87309172C>A	OMIM Allelic Variant:173110.0006	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.825delA (p.Glu276Asnfs)	5449	POU1F1	Pathogenic	587776798	RCV000014580;	N	MedGen:C2751608,OMIM:613038	3	87309173	87309173	NM_001122757.2:c.825delA	NP_001116229.1:p.Glu276Asnfs	NC_000003.11:g.87309173delT	OMIM Allelic Variant:173110.0009	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.793C>T (p.Pro265Ser)	5449	POU1F1	Pathogenic	104893762	RCV000014579;	N	MedGen:C2751608,OMIM:613038	3	87309205	87309205	NM_001122757.2:c.793C>T	NP_001116229.1:p.Pro265Ser	NC_000003.11:g.87309205G>A	OMIM Allelic Variant:173110.0008	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.766G>A (p.Glu256Lys)	5449	POU1F1	Pathogenic	104893764	RCV000014583;	N	MedGen:C2751608,OMIM:613038	3	87309232	87309232	NM_001122757.2:c.766G>A	NP_001116229.1:p.Glu256Lys	NC_000003.11:g.87309232C>T	OMIM Allelic Variant:173110.0012	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.743+1G>T	5449	POU1F1	Pathogenic	515726221	RCV000114426;	N	MedGen:C2751608,OMIM:613038	3	87310422	87310422	NM_001122757.2:c.743+1G>T		3:g.87310422C>A	-	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.655T>C (p.Trp219Arg)	5449	POU1F1	Pathogenic	104893758	RCV000014581;	N	MedGen:C2751608,OMIM:613038	3	87311248	87311248	NM_001122757.2:c.655T>C	NP_001116229.1:p.Trp219Arg	NC_000003.11:g.87311248A>G	OMIM Allelic Variant:173110.0010	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.615C>G (p.Ser205Arg)	5449	POU1F1	Pathogenic	104893766	RCV000014586;	N	MedGen:C2751608,OMIM:613038	3	87311288	87311288	NM_001122757.2:c.615C>G	NP_001116229.1:p.Ser205Arg	NC_000003.11:g.87311288G>C	OMIM Allelic Variant:173110.0015	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.593G>A (p.Arg198Gln)	5449	POU1F1	Pathogenic	104893765	RCV000014584;	N	MedGen:C2751608,OMIM:613038	3	87311310	87311310	NM_001122757.2:c.593G>A	NP_001116229.1:p.Arg198Gln	NC_000003.11:g.87311310C>T	OMIM Allelic Variant:173110.0013	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.592C>T (p.Arg198Ter)	5449	POU1F1	Pathogenic	104893754	RCV000014572;	N	MedGen:C2751608,OMIM:613038	3	87311311	87311311	NM_001122757.2:c.592C>T	NP_001116229.1:p.Arg198Ter	NC_000003.11:g.87311311G>A	OMIM Allelic Variant:173110.0001	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.550G>C (p.Ala184Pro)	5449	POU1F1	Pathogenic	104893756	RCV000014574;	N	MedGen:C2751608,OMIM:613038	3	87311353	87311353	NM_001122757.2:c.550G>C	NP_001116229.1:p.Ala184Pro	NC_000003.11:g.87311353C>G	OMIM Allelic Variant:173110.0003	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.511A>T (p.Lys171Ter)	5449	POU1F1	Pathogenic	104893763	RCV000014582;	N	MedGen:C2751608,OMIM:613038	3	87313444	87313444	NM_001122757.2:c.511A>T	NP_001116229.1:p.Lys171Ter	NC_000003.11:g.87313444T>A	OMIM Allelic Variant:173110.0011	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.506G>A (p.Arg169Gln)	5449	POU1F1	Pathogenic	104893759	RCV000014576;	N	MedGen:C2751608,OMIM:613038	3	87313449	87313449	NM_001122757.2:c.506G>A	NP_001116229.1:p.Arg169Gln	NC_000003.11:g.87313449C>T	OMIM Allelic Variant:173110.0005	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.482T>G (p.Phe161Cys)	5449	POU1F1	Pathogenic	104893761	RCV000014578;	N	MedGen:C2751608,OMIM:613038	3	87313473	87313473	NM_001122757.2:c.482T>G	NP_001116229.1:p.Phe161Cys	NC_000003.11:g.87313473A>C	OMIM Allelic Variant:173110.0007	C2751608 613038 Pituitary hormone deficiency, combined 1
NM_001122757.2(POU1F1):c.71C>T (p.Pro24Leu)	5449	POU1F1	Pathogenic	104893757	RCV000014575;	N	MedGen:C2751608,OMIM:613038	3	87325542	87325542	NM_001122757.2:c.71C>T	NP_001116229.1:p.Pro24Leu	NC_000003.11:g.87325542G>A	OMIM Allelic Variant:173110.0004	C2751608 613038 Pituitary hormone deficiency, combined 1