Disease browser and phenotype portal

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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Adrenal Insufficiency (D000309)
Parent Node: Fetal Growth Retardation (D005317)
Parent Node: Osteochondrodysplasias (D010009)
Parent Node: Urogenital Abnormalities (D014564)
..Starting node ..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
Child Nodes:
Sister Nodes:
..Allanson Pantzar McLeod syndrome (C537048) 1
..ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bladder Exstrophy (D001746) 1
..Calabro syndrome (C537960)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cryptorchidism (D003456) 12
..Disorders of Sex Development (D012734) 107
..DK Phocomelia Syndrome (C565618)
..Duker Weiss Siber syndrome (C535719)
..Epispadias (D004842) 1
..Genitopatellar Syndrome (C565255)
..Genitourinary Tract Anomalies (C564424)
..Hand foot uterus syndrome (C535627)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..Hypospadias (D007021) 17
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Lissencephaly, X-Linked, 2 (C564563)
..Microcephaly seizures genital hypoplasia (C537540)
..Microphthalmia, Syndromic 6 (C566440)
..Multicystic Dysplastic Kidney (D021782) 2
..Myotubular Myopathy with Abnormal Genital Development (C564561)
..Nephritis, Hereditary (D009394) 11
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Omphalocele exstrophy imperforate anus (C537748)
..Piepkorn Karp Hickok syndrome (C535774)
..Popliteal Pterygium Syndrome (C562509)
..Proud Syndrome (C563110)
..Pyelectasis (D058536)
..Renal Adysplasia (C563261)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal, Genital, and Middle Ear Anomalies (C564849)
..Retrocaval Ureter (D064749)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rosselli-Gulienetti Syndrome (C563117)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..Ureter, Bifid Or Double (C566012)
..Urinary Fistula (D014548) 2
..Uterine Anomalies (C562565)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5892

Name:

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Definition:

Alternative IDs:

OMIM:614732

ParentIDs:

MESH:D000309|MESH:D005317|MESH:D010009|MESH:D014564

TreeNumbers:

C05.116.099.708/C564543 |C12.706/C564543 |C13.351.875/C564543 |C13.703.277.370/C564543 |C16.131.939/C564543 |C16.300.390/C564543 |C19.053.500/C564543 |C23.550.393.450/C564543

Synonyms:

Adrenal Hypoplasia, Cytomegalic Type |IMAGE Syndrome

Slim Mappings:

Reference:

MedGen: C564543
MeSH: C564543
OMIM: 614732;

Genes: CDKN1C;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000835	Adrenal hypoplasia
3	HP:0000028	Cryptorchidism
4	HP:0000824	Decreased response to growth hormone stimulation test
5	HP:0002750	Delayed skeletal maturation
6	HP:0005280	Depressed nasal bridge
7	HP:0002656	Epiphyseal dysplasia
8	HP:0001263	Global developmental delay	HP:0040283
9	HP:0003072	Hypercalcemia
10	HP:0002150	Hypercalciuria
11	HP:0000047	Hypospadias
12	HP:0001511	Intrauterine growth retardation
13	HP:0000369	Low-set ears
14	HP:0000256	Macrocephaly	HP:0040283
15	HP:0100255	Metaphyseal dysplasia
16	HP:0000054	Micropenis
17	HP:0008897	Postnatal growth retardation
18	HP:0011220	Prominent forehead
19	HP:0003196	Short nose

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_000076.2(CDKN1C):c.836G>C (p.Arg279Pro)	1028	CDKN1C	Pathogenic	318240750	RCV000029185;	N	MedGen:C1846009,OMIM:614732,ORPHA:85173	11	2905349	2905349	NM_000076.2:c.836G>C	NP_000067.1:p.Arg279Pro	NC_000011.9:g.2905349C>A,NC_000011.9:g.2905349C>G	OMIM Allelic Variant:600856.0009	C1846009 614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
NM_000076.2(CDKN1C):c.832A>G (p.Lys278Glu)	1028	CDKN1C	Pathogenic	387907226	RCV000029187;	N	MedGen:C1846009,OMIM:614732,ORPHA:85173	11	2905353	2905353	NM_000076.2:c.832A>G	NP_000067.1:p.Lys278Glu	NC_000011.9:g.2905353T>C	OMIM Allelic Variant:600856.0011	C1846009 614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
NM_000076.2(CDKN1C):c.827T>C (p.Phe276Ser)	1028	CDKN1C	Pathogenic	387907224	RCV000029184;	N	MedGen:C1846009,OMIM:614732,ORPHA:85173	11	2905358	2905358	NM_000076.2:c.827T>C	NP_000067.1:p.Phe276Ser	NC_000011.9:g.2905358A>G	OMIM Allelic Variant:600856.0008	C1846009 614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
NM_000076.2(CDKN1C):c.826T>G (p.Phe276Val)	1028	CDKN1C	Pathogenic	387907223	RCV000029183;	N	MedGen:C1846009,OMIM:614732,ORPHA:85173	11	2905359	2905359	NM_000076.2:c.826T>G	NP_000067.1:p.Phe276Val	NC_000011.9:g.2905359A>C	OMIM Allelic Variant:600856.0007	C1846009 614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
NM_000076.2(CDKN1C):c.820G>A (p.Asp274Asn)	1028	CDKN1C	Pathogenic	387907225	RCV000029186;	N	MedGen:C1846009,OMIM:614732,ORPHA:85173	11	2905900	2905900	NM_000076.2:c.820G>A	NP_000067.1:p.Asp274Asn	NC_000011.9:g.2905900C>T	OMIM Allelic Variant:600856.0010	C1846009 614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
NM_000076.2(CDKN1C):c.815T>G (p.Ile272Ser)	1028	CDKN1C	Pathogenic	515726203	RCV000119018;	N	MedGen:C1846009,OMIM:614732,ORPHA:85173	11	2905905	2905905	NM_000076.2:c.815T>G	NP_000067.1:p.Ile272Ser	11:g.2905905A>C	-	C1846009 614732 Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies