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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

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Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Dwarfism, Pituitary (D004393)
Parent Node: Hypothyroidism (D007037)
..Starting node ..Pituitary Hormone Deficiency, Combined, 4 (C567492)
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:

8963

Name:

Pituitary Hormone Deficiency, Combined, 4

Definition:

Alternative IDs:

OMIM:262700

ParentIDs:

MESH:D000015|MESH:D004393|MESH:D007037

TreeNumbers:

C05.116.099.343.445/C567492 |C05.116.132.358/C567492 |C10.228.140.617.738.300.300/C567492 |C16.131.077/C567492 |C19.297.312/C567492 |C19.700.482.311/C567492 |C19.874.482/C567492

Synonyms:

CPHD4 |Pituitary Hormone Deficiency, Combined, With Or Without Cerebellar Defects |Short Stature, Pituitary And Cerebellar Defects, And Small Sella Turcica

Slim Mappings:

Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C567492
MeSH: C567492
OMIM: 262700;

Genes: LHX4;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000846	Adrenal insufficiency
4	HP:0001943	Hypoglycemia
5	HP:0000821	Hypothyroidism
6	HP:0003799	Marked delay in bone age
7	HP:0000839	Pituitary dwarfism
8	HP:0008850	Severe postnatal growth retardation
9	HP:0010538	Small sella turcica	HP:0040283

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_033343.3(LHX4):c.452-2A>C	-1	-	Pathogenic	786204780	RCV000169664;	N	MedGen:C2678408,OMIM:262700,ORPHA:85442	1	180240513	180240513	NM_033343.3:c.452-2A>C		NC_000001.10:g.180240513A>C	-	C2678408 262700 Pituitary hormone deficiency, combined 4
NM_033343.3(LHX4):c.569T>G (p.Leu190Arg)	-1	-	Pathogenic	121912643	RCV000007938;	N	MedGen:C2678408,OMIM:262700,ORPHA:85442	1	180240632	180240632	NM_033343.3:c.569T>G	NP_203129.1:p.Leu190Arg	NC_000001.10:g.180240632T>G	OMIM Allelic Variant:602146.0004	C2678408 262700 Pituitary hormone deficiency, combined 4
NM_033343.3(LHX4):c.628G>C (p.Ala210Pro)	-1	-	Pathogenic	121912641	RCV000007936;	N	MedGen:C2678408,OMIM:262700,ORPHA:85442	1	180240991	180240991	NM_033343.3:c.628G>C	NP_203129.1:p.Ala210Pro	NC_000001.10:g.180240991G>C	OMIM Allelic Variant:602146.0002	C2678408 262700 Pituitary hormone deficiency, combined 4
NM_033343.3(LHX4):c.1162C>A (p.Pro388Thr)	-1	-	Pathogenic	121912644	RCV000007939;	N	MedGen:C2678408,OMIM:262700,ORPHA:85442	1	180243703	180243703	NM_033343.3:c.1162C>A	NP_203129.1:p.Pro388Thr	NC_000001.10:g.180243703C>A	OMIM Allelic Variant:602146.0005	C2678408 262700 Pituitary hormone deficiency, combined 4
NM_033343.3(LHX4):c.250C>T (p.Arg84Cys)	89884	LHX4	Pathogenic	121912642	RCV000007937;	N	MedGen:C2678408,OMIM:262700,ORPHA:85442	1	180235528	180235528	NM_033343.3:c.250C>T	NP_203129.1:p.Arg84Cys	NC_000001.10:g.180235528C>T	OMIM Allelic Variant:602146.0003	C2678408 262700 Pituitary hormone deficiency, combined 4
NM_033343.3(LHX4):c.293dupC (p.Thr99Asnfs)	89884	LHX4	Pathogenic	587776662	RCV000007940;	N	MedGen:C2678408,OMIM:262700,ORPHA:85442	1	180235571	180235571	NM_033343.3:c.293dupC	NP_203129.1:p.Thr99Asnfs		OMIM Allelic Variant:602146.0006	C2678408 262700 Pituitary hormone deficiency, combined 4