MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
Chromosome Deletion (D002872)
Parent Node:
Craniofacial Abnormalities (D019465)
Parent Node:
Cystinuria (D003555)
Parent Node:
Intellectual Disability (D008607)
Parent Node:
Mitochondrial Diseases (D028361)
Parent Node:
Muscle Hypotonia (D009123)
..Starting node
Hypotonia-Cystinuria Syndrome (C564710)

       Child Nodes:

 Sister Nodes: 
..expandAllan-Herndon-Dudley syndrome (C537047)
..expandAtonic-Astatic Syndrome of Foerster (C565926)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBirk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCohen syndrome (C536438)
..expandCombined Oxidative Phosphorylation Deficiency 3 (C566467)  LSDB  L: 00097;
..expandCreases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandEmanuel syndrome (C535733)
..expandEthanolaminosis (C562651)
..expandFumaric aciduria (C538191)
..expandGerman Syndrome (C562543)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..expandHypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandJoubert Syndrome 10 (C567582)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandKetoadipicaciduria (C565453)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMiller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..expandOpitz-Kaveggia syndrome (C537923)
..expandQazi Markouizos syndrome (C536259)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandScalp ear nipple syndrome (C536623)
..expandThree M Syndrome 2 (C567862)

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5643
Name:Hypotonia-Cystinuria Syndrome
Alternative IDs:OMIM:606407
TreeNumbers:C05.660.207/C564710 |C10.597.606.643/C564710 |C10.597.613.575/C564710 |C12.777.419.815.885.250/C564710 |C13.351.968.419.815.885.250/C564710 |C16.131.621.207/C564710 |C16.320.565.861.885.250/C564710 |C18.452.648.861.885.250/C564710 |C18.452.660/C564710 |C23.550.21
Synonyms:Cystinuria with Mitochondrial Disease |HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED |Homozygous 2p21 Deletion Syndrome
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mental disorder|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C564710
MeSH: C564710
OMIM: 606407;
MSeqDR LSDB: 00416;  
Genes: AF8T;
1 HP:0000007Autosomal recessive inheritance
2 HP:0003287Abnormality of mitochondrial metabolismhallmark
3 HP:0000499Abnormality of the eyelasheshallmark
4 HP:0000078Abnormality of the genital systemhallmark
5 HP:0001608Abnormality of the voicehallmark
6 HP:0011398Central hypotonia
7 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
8 HP:0001466Contiguous gene syndrome
9 HP:0003131Cystinuria
10 HP:0001558Decreased fetal movement
11 HP:0005280Depressed nasal bridgehallmark
12 HP:0005280Depressed nasal bridge
13 HP:0000268Dolichocephaly
14 HP:0000268Dolichocephalyhallmark
15 HP:0000286Epicanthustypical
16 HP:0001508Failure to thrive
17 HP:0008872Feeding difficulties in infancy
18 HP:0002007Frontal bossing
19 HP:0002007Frontal bossinghallmark
20 HP:0002007Frontal bossingtypical
21 HP:0001263Global developmental delay
NAMDC:  Mental retardation
22 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
23 HP:0000824Growth hormone deficiency
24 HP:0000815Hypergonadotropic hypogonadism
25 HP:0002901Hypocalcemiatypical
26 HP:0001943Hypoglycemiaoccasional
27 HP:0010864Intellectual disability, severe
28 HP:0003128Lactic acidosis
29 HP:0000527Long eyelashes
30 HP:0000368Low-set, posteriorly rotated earshallmark
31 HP:0000400Macrotia
32 HP:0000347Micrognathiatypical
33 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
34 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
35 HP:0001611Nasal speech
36 HP:0001998Neonatal hypoglycemia
37 HP:0000787Nephrolithiasishallmark
38 HP:0000787Nephrolithiasis
39 HP:0002167Neurological speech impairmenthallmark
40 HP:0002591Polyphagia
41 HP:0000358Posteriorly rotated ears
42 HP:0001557Prenatal movement abnormalityoccasional
43 HP:0001557Prenatal movement abnormalityhallmark
44 HP:0000508Ptosis
NAMDC:  Ptosis
45 HP:0000508Ptosis
NAMDC:  Ptosis
46 HP:0001250Seizures
NAMDC:  Seizures
47 HP:0010804Tented upper lip vermilion
Disease Causing ClinVar Variants
MSeqDR Portal