Hypoparathyroidism-Retardation-Dysmorphism Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HRDS MCID: HYP134 MIFTS: 52	Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRDS) Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

Sources

Aliases & Classifications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

MalaCards integrated aliases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Name: Hypoparathyroidism-Retardation-Dysmorphism Syndrome ⁵⁶ ¹² ⁷³ ³⁶ ¹³ ⁴³ ¹⁵ ³⁹ ⁷¹

Sanjad-Sakati Syndrome ⁵⁶ ¹² ⁵⁸ ⁷³ ⁵⁴

Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures ⁵⁶ ⁷³

Hypoparathyroidism Retardation Dysmorphism Syndrome ²⁹ ⁶

Hrd Syndrome ¹² ⁵⁸

Hrds ⁵⁶ ⁷³

Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay ⁵⁶

Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome ⁵⁸

Hypoparathyroidism with Short Stature, Mental Retardation and Seizures ¹²

Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome ⁵⁸

Richardson-Kirk Syndrome ⁵⁸

Sss ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

sanjad-sakati syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
allelic to kenny-caffey syndrome type 1

HPO:

³¹

hypoparathyroidism-retardation-dysmorphism syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Endocrine diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁸

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060348

OMIM ⁵⁶ 241410

KEGG ³⁶ H00622

MeSH ⁴³ C537157 D007011 D008607 more

NCIt ⁴⁹ C133727

ICD10 via Orphanet ³³ Q87.1

UMLS via Orphanet ⁷² C1855840

Orphanet ⁵⁸ ORPHA2323

MedGen ⁴¹ C1855840

UMLS ⁷¹ C1855840

Sources

Summaries for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

KEGG : ³⁶ Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia associated with hypoparathyroidism, prenatal and postnatal growth retardation, seizures, and facial anomalies. The dysmorphic features include deep-set eyes, depressed nasal bridge, thin upper lip, and ear anomalies.

MalaCards based summary : Hypoparathyroidism-Retardation-Dysmorphism Syndrome, also known as sanjad-sakati syndrome, is related to hypoparathyroidism and kenny-caffey syndrome, and has symptoms including seizures An important gene associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome is TBCE (Tubulin Folding Cofactor E), and among its related pathways/superpathways are Metabolism of proteins and Chaperonin-mediated protein folding. The drugs Norepinephrine and Methadone have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and bone, and related phenotypes are intellectual disability and seizures

Disease Ontology : ¹² An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity.

OMIM : ⁵⁶ HRDS is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay (summary by Padidela et al., 2009 and Ratbi et al., 2015). (241410)

UniProtKB/Swiss-Prot : ⁷³ Hypoparathyroidism-retardation-dysmorphism syndrome: An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism.

Wikipedia : ⁷⁴ Sanjad-Sakati syndrome is a rare autosomal recessive genetic condition seen in offspring of Middle... more...

Sources

Related Diseases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 80)

#	Related Disease	Score	Top Affiliating Genes
1	hypoparathyroidism	30.4	TBCE GCM2 FAM111A
2	kenny-caffey syndrome	30.2	TUBA1B TBCE FAM111A
3	sick sinus syndrome	12.1
4	hypoparathyroidism-intellectual disability-dysmorphism syndrome	11.9
5	sick sinus syndrome 2	11.8
6	stiff skin syndrome	11.7
7	subclavian steal syndrome	11.5
8	sick sinus syndrome 1	11.3
9	sinus node disease and myopia	11.2
10	sick sinus syndrome 3	11.2
11	chronic atrial and intestinal dysrhythmia	11.2
12	kenny-caffey syndrome, type 1	10.5
13	hyperphosphatemia	10.5
14	hypothyroidism	10.5
15	dwarfism	10.5
16	autosomal recessive disease	10.5
17	hashimoto thyroiditis	10.3
18	visceral myopathy	10.3
19	strabismus	10.3
20	astigmatism	10.3
21	corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	10.3
22	deficiency anemia	10.3
23	congenital hypothyroidism	10.3
24	tooth agenesis	10.3
25	monocular esotropia	10.3
26	alternating exotropia	10.3
27	exotropia	10.3
28	visual epilepsy	10.3
29	status epilepticus	10.3
30	dental caries	10.3
31	macrocytic anemia	10.3
32	retinal vascular disease	10.3
33	superior mesenteric artery syndrome	10.3
34	myopathy	10.3
35	thyroiditis	10.3
36	mechanical strabismus	10.3
37	esotropia	10.3
38	chronic intestinal pseudoobstruction	10.3
39	seizure disorder	10.3
40	acrocephalopolysyndactyly type iii	10.2
41	retinitis pigmentosa 11	10.2
42	alacrima, achalasia, and mental retardation syndrome	10.2
43	primary microcephaly	10.2
44	hypogonadotropic hypogonadism	10.2
45	microphthalmia	10.2
46	hypogonadism	10.2
47	hypogonadotropism	10.2
48	neuroblastoma	10.2
49	microcephaly	10.2
50	obsolete: sakati-nyhan syndrome	10.2

Graphical network of the top 20 diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Sources

Symptoms & Phenotypes for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Human phenotypes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

⁵⁸ ³¹ (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	seizures ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001250
3	delayed skeletal maturation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002750
4	depressed nasal bridge ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005280
5	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
6	micrognathia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000347
7	microcephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000252
8	long philtrum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000343
9	short foot ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001773
10	postnatal growth retardation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008897
11	external ear malformation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008572
12	deeply set eye ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000490
13	small hand ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0200055
14	hypocalcemia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002901
15	thin vermilion border ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000233
16	high forehead ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000348
17	low-set, posteriorly rotated ears ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000368
18	convex nasal ridge ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000444
19	hyperphosphatemia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002905
20	severe intrauterine growth retardation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008846
21	congenital hypoparathyroidism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008198
22	recurrent respiratory infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002205
23	abnormality of dental enamel ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000682
24	corneal opacity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007957
25	cryptorchidism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000028
26	myopathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003198
27	ventriculomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002119
28	intestinal obstruction ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005214
29	cellular immunodeficiency ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005374
30	hypoplasia of penis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008736
31	spinal canal stenosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003416
32	aplasia/hypoplasia affecting the eye ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008056
33	astigmatism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000483
34	patchy osteosclerosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005686
35	low-set ears ³¹			HP:0000369
36	frontal bossing ³¹			HP:0002007
37	abnormality of the dentition ⁵⁸		Frequent (79-30%)
38	prominent forehead ³¹			HP:0011220
39	short palm ³¹			HP:0004279
40	hypoparathyroidism ⁵⁸		Very frequent (99-80%)
41	posteriorly rotated ears ³¹			HP:0000358
42	micropenis ³¹			HP:0000054
43	tetany ³¹			HP:0001281
44	recurrent bacterial infections ³¹			HP:0002718
45	hypoplasia of the corpus callosum ³¹			HP:0002079
46	bifid uvula ³¹			HP:0000193
47	delayed myelination ³¹			HP:0012448
48	growth hormone deficiency ³¹			HP:0000824
49	hypocalcemic seizures ³¹			HP:0002199

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
microcephaly

Genitourinary External Genitalia Male:
micropenis

Neurologic Central Nervous System:
tetany
delayed myelination
hypocalcemic seizures
mental retardation
thin corpus callosum
more

Head And Neck Mouth:
bifid uvula
thin lips

Skeletal:
patchy osteosclerosis
delayed bone age

Skeletal Hands:
small hands

Head And Neck Nose:
depressed nasal bridge
beaked nose

Head And Neck Face:
micrognathia
prominent forehead
long philtrum

Growth Other:
postnatal growth retardation
intrauterine growth retardation, severe

Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia

Immunology:
recurrent bacterial infections
normal cell mediated immunity

Endocrine Features:
growth hormone deficiency
congenital hypoparathyroidism
low parathyroid hormone

Head And Neck Eyes:
deep-set eyes

Skeletal Feet:
small feet

Clinical features from OMIM:

241410

UMLS symptoms related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

seizures

GenomeRNAi Phenotypes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced shRNA abundance in FBW7 KO line	GR00369-A	8.8	B3GALNT2 TBCB TUBA1B

Sources

Drugs & Therapeutics for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Drugs for Hypoparathyroidism-Retardation-Dysmorphism Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Norepinephrine

Approved

Phase 4

51-41-2

439260

Synonyms:

(-)-(R)-Norepinephrine

(-)-alpha-(Aminomethyl)protocatechuyl alcohol

(−)-arterenol

(-)-Arterenol

(-)-Arterenol free base

(−)-noradrenaline

(-)-Noradrenaline

(-)-NORADRENALINE

(−)-norepinephrine

(-)-Norepinephrine

(R)-(−)-norepinephrine

(R)-(-)-Norepinephrine

(R)-4-(2-amino-1-hydroxyethyl)-1,2-benzenediol

(R)-4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol

(R)-4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol

(R)-noradrenaline

(R)-Noradrenaline

(R)-norepinephrine

(R)-Norepinephrine

1,2-Benzenediol, 4-(2-amino-1-hydroxyethyl)-, (R)- (9CI)

4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol

4-[(1R)-2-amino-1-Hydroxyethyl]-1,2-benzenediol

4-[(1R)-2-Amino-1-hydroxyethyl]-1,2-benzenediol

4-[(1R)-2-amino-1-hydroxyethyl]benzene-1,2-diol

4899-05-2

51-40-1 (l-tartrate (1:1))

51-41-2

66197-73-7

A7257_SIGMA

Abbott brand OF levophed bitartrate

AC1L96ZT

Adrenor

Aktamin

ALBB-006229

Arterenol

Aventis brand OF norepinephrine hydrochloride

Bitartrate, levophed

Bitartrate, noradrenaline

Bitartrate, norepinephrine

bmse000404

BRN 4231961

BSPBio_002079

C00547

CHEBI:18357

CHEMBL1437

CID439260

D-(-)-Noradrenaline

D00076

D53D5E3A-2360-4CA9-8031-6C2CD4062FD5

DB00368

DivK1c_000230

EINECS 200-096-6

HMS1920B08

HMS2089E18

HMS2091J08

HMS500L12

Hydrochloride, norepinephrine

IDI1_000230

KBio1_000230

KBio2_001489

KBio2_004057

KBio2_006625

KBio3_001579

KBioGR_000635

KBioSS_001489

l-1-(3,4-Dihydroxyphenyl)-2-aminoethanol

l-2-Amino-1-(3,4-dihydroxyphenyl)ethanol

L-2-amino-1-(3,4-Dihydroxyphenyl)ethanol

L-3,4-dihydroxyphenylethanolamine

L-3,4-Dihydroxyphenylethanolamine

L-alpha-(aminomethyl)-3,4-dihydroxybenzyl alcohol

L-alpha-(Aminomethyl)-3,4-dihydroxybenzyl alcohol

L-arterenol

L-Arterenol

Levarterenol

Levarterenolo

Levarterenolo [DCIT]

Levoarterenol

Levonor

Levonoradrenaline

Levonorepinephrine

Levophed

Levophed bitartrate

L-noradrenaline

L-Noradrenaline

L-Norepinephrine

L-NOREPINEPHRINE

LS-42676

LT03330026

LT4

NCGC00159406-02

NCGC00159406-03

NCGC00159406-04

NCGC00159406-05

NCGC00159406-06

NCGC00159406-07

NCGC00159406-09

nchembio.284-comp2

nchembio.64-comp2

nchembio705-1

NINDS_000230

Nor adrenalin

Nor adrenalin (TN)

Noradrenalin

Noradrenalina

Noradrenalina [Italian]

noradrenaline

Noradrenaline

Nor-adrenaline

Noradrenaline (JP15)

Noradrenaline bitartrate

Noradrénaline tartrate renaudin

Noradrenalinum

Norartrinal

Noreinefrina

Noreinefrina [INN-Spanish]

norepinefrina

Norepinefrina

Norepinephrin D-tartrate (1:1)

norepinephrine

Norepinephrine

Norépinéphrine

Norepinephrine (INN)

Norepinephrine [INN:JAN]

Norepinephrine bitartrate

Norepinephrine D-tartrate (1:1)

Norepinephrine hydrochloride

Norepinephrine hydrochloride, (+)-isomer

Norepinephrine hydrochloride, (+,-)-isomer

Norepinephrine l-Tartrate (1:1)

Norepinephrine L-tartrate (1:1)

Norepinephrine L-tartrate (1:1), (+,-)-isomer

Norepinephrine L-tartrate (1:1), monohydrate

Norepinephrine L-tartrate (1:1), monohydrate, (+)-isomer

Norepinephrine L-tartrate (1:2)

Norepinephrine L-tartrate, (+)-isomer

Norepinephrine Noradrenalin

Norepinephrine, (+)-isomer

Norepinephrine, (+,-)-isomer

norepinephrinum

Norepinephrinum

Norepinephrinum [INN-Latin]

Norepirenamine

Nor-epirenan

PDSP1_001111

PDSP2_001095

Renaudin brand OF norepinephrine bitartrate

Renaudin, noradrénaline tartrate

SGCUT00123

SPBio_001048

Spectrum_001009

SPECTRUM1500436

Spectrum2_001064

Spectrum3_000520

Spectrum4_000078

Spectrum5_001068

STK503776

Sympathin e

Sympathin E

Tartrate renaudin, noradrénaline

to_000024

UNII-X4W3ENH1CV

Methadone

Approved

Phase 4

76-99-3

4095

Synonyms:

(-)-(R)-6-(Dimethylamino)-4,4-diphenyl-3-heptanone

(-)-Methadone

(+)-Methadone

(+-)-Methadone

(+/-)-methadone

(+/-)-Methadone

(+/-)-methadone hydrochloride

(+/-)-Methadone hydrochloride

(+/-)-Tussal

(±)-methadone

(6R)-Methadone

(R)-6-(Dimethylamino)-4,4-diphenyl-3-heptanone

(R)-6-(Dimethylamino)-4,4-diphenyl-3-hetpanone

(S)-6-(Dimethylamino)-4,4-diphenyl-3-heptanone

1095-90-5 (hydrochloride)

297-88-1

3-14-00-00278 (Beilstein Handbook Reference)

3-14-00-00279 (Beilstein Handbook Reference)

3-Hetpanone, 6-(dimethylamino)-4,4-diphenyl-, (R)- (9CI)

5653-80-5

6-(Dimethylamino)-4,4-diphenyl-3-heptanone dl-mixture

6-(dimethylamino)-4,4-diphenylheptan-3-one

6-dimethylamino-4,4-di(phenyl)heptan-3-one

6-dimethylamino-4,4-Diphenyl-3-heptanone

6-Dimethylamino-4,4-diphenyl-3-heptanone

6S-Methadone

76-99-3

A 4624

AC-16055

AC1L1HEG

AC1Q2RLW

Adanon

Adanon hydrochloride

AddiCare brand OF methadone hydrochloride

Adolan

Algidon

Algolysin

Algovetin

Althose

Althose hydrochloride

Amidon

Amidone

AN 148

AN-148 (*Hydrochloride*)

Biodone

Biomet brand OF methadone hydrochloride

Biscuits

BRN 3213667

BRN 3213668

BRN 3213669

Butalgin

C07163

CHEBI:6807

CHEMBL651

CID4095

D08195

d-6-(Dimethylamino)-4,4-diphenyl-3-heptanone

DB00333

DEA No. 9250

Depridol

Dextromethadone

Diaminon

Diaminon hydrochloride

DivK1c_000963

dl-Methadone

DL-Methadone

DL-Methadone hydrochloride

d-Methadone

Dollies

Dolly

Dolofin hydrochloride

Dolohepton

Dolophin

Dolophin hydrochloride

Dolophine

Dolophine (*Hydrochloride*)

Dolophine HCL

EINECS 200-996-9

Esteve brand OF methadone hydrochloride

Fenadon

Fenadone

Fenadone (*Hydrochloride*)

Generics brand OF methadone hydrochloride

GlaxoSmithKline brand OF methadone hydrochloride

Heptadon

Heptadone

Heptadone (*Hydrochloride*)

Heptanon

Heptanon (*Hydrochloride*)

Heptanon (pharmaceutical)

Hoechst 10820

Hoescht 10820 (*Hydrochloride*)

HSDB 3119

Hydrochloride, methadone

IDI1_000963

K 174

KBio1_000963

Ketalgin

Ketalgin hydrochloride

L-(+)-Methadone

L000874

L-6-(Dimethylamino)-4,4-diphenyl-3-heptanone

Levometadona

Levometadona [INN-Spanish]

Levomethadone [INN]

Levomethadonum

Levomethadonum [INN-Latin]

Levothyl

l-Methadone

L-Polamidon

l-Polamivet

LS-74485

LS-74486

LS-74487

Mallinckrodt brand OF methadone hydrochloride

Martindale brand OF methadone hydrochloride

Mecodin

Mephenon

Metadol

Metadona

Metadona [INN-Spanish]

Metadona [Spanish]

Metadone

Metadone [DCIT]

Metasedin

Methaddict

Methadon

Methadona

Methadona [Spanish]

methadone

Methadone

Methadone (BAN)

Methadone [INN:BAN]

Methadone HCL

Methadone HCL Intensol

Methadone hydrochloride

Methadone M

Methadonum

Methadonum [INN-Latin]

Methadonum [Latin]

Methadose

Methaquaione

Methex

Miadone

Moheptan

MolPort-001-785-650

NINDS_000963

Pharmascience brand OF methadone hydrochloride

Phenadone

Phenadone (*Hydrochloride*)

Phenadone hydrochloride

Phymet

Physeptone

Pinadone

Pinewood brand OF methadone hydrochloride

Polamidon

Polamidone

Polamivet

Racemic methadone

Rosemont brand OF methadone hydrochloride

Roxane brand OF methadone hydrochloride

S-(+)-Methadone

Sedo-Rapide

Symoron

Tussol

UNII-UC6VBE7V1Z

Westadone

Yamanouchi brand OF methadone hydrochloride

Neurotransmitter Agents

Phase 4

Narcotics

Phase 4

Analgesics

Phase 4

Psychotropic Drugs

Phase 4

Central Nervous System Depressants

Phase 4

Analgesics, Opioid

Phase 4

Desvenlafaxine Succinate

Phase 4

386750-22-7

Antidepressive Agents

Phase 4

Serotonin and Noradrenaline Reuptake Inhibitors

Phase 4

Serotonin

Investigational, Nutraceutical

Phase 4

50-67-9

5202

Synonyms:

3-(2-Aminoethyl)-1H-indol-5-ol

3-(2-Aminoethyl)indol-5-ol

3-(b-Aminoethyl)-5-hydroxyindole

5 Hydroxytryptamine

5-HT

5-HTA

5-Hydroxy-3-(b-aminoethyl)indole

5-Hydroxyltryptamine

5-Hydroxytriptamine

5-Hydroxytryptamine

5-Hydroxy-tryptamine

Antemovis

DS Substance

Enteramin

Enteramine

Hippophaine

Hydroxytryptamine

Serotonine

sérotonine

thrombocytin

Thrombocytin

thrombotonin

Thrombotonin

Olaparib

Approved

Phase 3

763113-22-0

23725625

Synonyms:

4-(3-{[4-(cyclopropylcarbonyl)piperazin-1-yl]carbonyl}-4-fluorobenzyl)phthalazin-1(2H)-one

4-[(3-{[4-Cyclopropylcarbonyl)piperazin-4-yl]carbonyl}-4-fluorophenyl)methyl]phtalazin-1(2H)-one

4-[3-(4-Cyclopropanecarbonyl-piperazine-1-carbonyl)-4-fluoro-benzyl]-2H-phthalazin-1-one

763113-22-0

937799-91-2

Acylpiperazine analogue, 47

AKOS005145764

AZD 2281

AZD2281

AZD-2281

CHEMBL521686

EC-000.2324

EN002690

FT-0083489

KU-0059436

KU-59436

olaparib

Olaparib

Olaparib, KU-0059436, AZD2281, KU0059436, AZD2281

S1060_Selleck

Poly(ADP-ribose) Polymerase Inhibitors

Phase 3

Valproic acid

Approved, Investigational

Phase 2

99-66-1

3121

Synonyms:

(N-C3H7)2chcooh

(S)-2-Propyl-4-pentanoate

(S)-2-Propyl-4-pentanoic acid

2 PP (base)

2 Propylpentanoic acid

2-N-Propyl-N-valerate

2-n-propyl-n-valeric acid

2-n-Propyl-n-valeric acid

2-N-Propyl-N-valeric acid

2-Propylpentanoate

2-PROPYL-pentanoate

2-propyl-pentanoic acid

2-Propylpentanoic acid

2-Propylpentanoic Acid

2-PROPYL-pentanoIC ACID

2-Propylvalerate

2-propylvaleric acid

2-Propylvaleric acid

2-Propylvaleric Acid

4-Heptanecarboxylate

4-heptanecarboxylic acid

4-Heptanecarboxylic acid

76584-70-8 (hydrochloride salt (2:1))

99-66-1

Abbott 44090

AC1L1F7T

AC1Q2ULA

Acetate, dipropyl

Acid, propylisopropylacetic

Acid, valproic

Acide valproique

acide valproïque

Acide valproique [INN-French]

acido Valproico

Acido valproico

ácido valproico

Acido valproico [INN-Spanish]

acidum valproicum

Acidum valproicum

Acidum valproicum [INN-Latin]

AI3-10500

Alti-valproic

Alti-Valproic

apo-Divalproex

apo-Valproic

apo-Valproic syrup

Avugane

Baceca

BIDD:GT0858

BRN 1750447

C07185

Calcium valproate

Calcium, valproate

CHEBI:39867

CHEMBL109

CID3121

Convulex

Convulsofin

CPD000499581

D00399

DB00313

Delepsine

Depacon

Depakene

Depakene (TN)

Depakin

Depakin chrono

Depakine

Depakine chrono

Depakote

Depakote (TM)

Deproic

Di-N-propylacetate

di-n-propylacetic acid

Di-n-propylacetic acid

Di-N-propylacetic acid

Di-n-propylessigsaeure

Di-N-propylessigsaeure

Di-n-propylessigsaure

Di-N-propylessigsaure

Di-n-propylessigsäure

Di-n-propylessigsaure [German]

Dipropyl acetate

Dipropyl Acetate

Dipropylacetate

Dipropylacetic acid

Divalproex

Divalproex sodium

DivK1c_000273

DOM-divalproex

Dom-valproate

Dom-Valproic

DOM-valproic

Dom-valproic acid

DOM-valproic acid e.c.

Dom-valproic acid syrup

DPA

EINECS 202-777-3

Epiject i.v.

Epilex

Epilim

Epival

Epival er

Ergenyl

G2M-777

Gen-divalproex

HMS2089J06

HSDB 3582

I04-0211

InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)

KBio1_000273

KBio2_001001

KBio2_002277

KBio2_003569

KBio2_004845

KBio2_006137

KBio2_007413

KBio3_002626

KBio3_002757

KBioGR_000871

KBioGR_002277

KBioSS_001001

KBioSS_002278

Kyselina 2-propylvalerova

Kyselina 2-propylvalerova [Czech]

LS-161170

LS-2068

Magnesium valproate

Med valproic

Med Valproic

MLS001076682

MLS001335927

MLS001335928

MLS002415770

MolPort-001-791-895

Mylproin

Myproate

Myproic acid

Myproic Acid

NCGC00091149-01

NCGC00091149-02

NCGC00091149-03

NCGC00091149-04

nchembio.79-comp4

nchembio815-comp21

n-Dipropylacetic acid

N-Dipropylacetic acid

n-DPA

N-DPA

NINDS_000273

novo-Divalproex

novo-Valproic

Novo-Valproic

novo-Valproic - ecc

novo-Valproic soft gel cap

NSC 93819

NSC93819

Nu-valproic

Nu-Valproic

P0823

P6273_SIGMA

PEAC

Penta-valproic

Penta-Valproic

PHL-Valproate

PHL-Valproic acid

PHL-Valproic acid e.c.

PMS-Divalproex

PMS-Valproate

PMS-Valproic acid

PMS-Valproic Acid

PMS-Valproic acid e.c.

Propylisopropylacetic acid

Propylvaleric acid

ratio-Valproic - ecc

S(-)-4-En-valproate

S(-)-4-En-valproic acid

S-2-N-Propyl-4-pentenoate

S-2-N-Propyl-4-pentenoic acid

SAM002564230

Sandoz valproic

Savicol

SBB065764

Semisodium valproate

Semisodium Valproate

SMR000499581

Sodium hydrogen divalproate

Sodium valproate

Sodium, divalproex

Sodium, valproate

SPBio_000912

Spectrum_000521

Spectrum2_000946

Spectrum3_001733

Spectrum4_000376

Sprinkle

Stavzor

UNII-614OI1Z5WI

Valcote

Valparin

valproate

Valproate

Valproate calcium

Valproate semisodique [French]

Valproate semisodium

Valproate sodium

Valproate, calcium

Valproate, magnesium

Valproate, semisodium

Valproate, sodium

Valproato semisodico [Spanish]

Valproatum seminatricum [Latin]

valproic acid

Valproic acid

VALPROIC ACID

Valproic acid (USP)

Valproic acid [USAN:INN:BAN]

Valproic acid usp

Valproic acid USP

Valproic acid USP24

Valproic acid, sodium salt (2:1)

Valproic Acid, Sodium Salt (2:1)

Valproinsaeure

Valproinsäure

VPA

Vupral

WLN: QVY3 & 3

Lamotrigine

Approved, Investigational

Phase 2

84057-84-1

3878

Synonyms:

3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine

3,5-diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine

3,5-diamino-6-(2,3-Dichlorophenyl)-1,2,4-triazine

3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine

3,5-diamino-6-(2,3-Dichlorophenyl)-as-triazine

3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine

6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine

6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine

84057-84-1

AC-10298

AC1L1GWT

BIDD:GT0794

Bio-0056

BW 430C

BW-430C

C047781

CHEBI:138727

CHEBI:6367

CHEMBL741

CID3878

CPD000058464

Crisomet

D00354

DB00555

Desitin Brand of Lamotrigine

EINECS 281-901-8

EU-0100688

EUR-1048

Faes Brand of Lamotrigine

GI 267119X

Glaxo Wellcome Brand of Lamotrigine

GlaxoSmithKline Brand of Lamotrigine

GW 273293

HMS2051C10

HMS2089M08

HMS2093P21

HSDB 7526

Juste Brand of Lamotrigine

L 3791

L3791_SIGMA

Labileno

Lamictal

Lamictal (TN)

Lamictal Cd

Lamictal CD

Lamictal ODT

Lamictal XR

Lamictin

Lamiktal

Lamitor

Lamotrigina

Lamotrigina [Spanish]

lamotrigine

Lamotrigine

Lamotrigine (JAN/USAN/INN)

Lamotrigine [USAN:INN:BAN]

Lamotriginum

Lamotriginum [Latin]

Lopac0_000688

Lopac-L-3791

LS-155249

MLS000069685

MLS000759486

MLS001077325

MolPort-003-666-744

NCGC00015605-01

NCGC00015605-02

NCGC00015605-06

NCGC00015605-08

NCGC00022936-02

NCGC00022936-04

NCGC00022936-05

NSC746307

SAM001246697

SMP2_000303

SMR000058464

STK628377

Tocris-1611

UNII-U3H27498KS

ZINC00013156

Calcium

Approved, Nutraceutical

Phase 2

7440-70-2

271

Synonyms:

Blood coagulation factor XIII

Ca(2+)

Ca2+

Calcio

Calcium

Calcium element

CALCIUM ion

Calcium, doubly charged positive ion

Calcium, elemental

Coagulation factor XIII

Elemental calcium

Factor XIII

Factor XIII a chain

Factor XIII a-chain

Factor XIII transamidase

Factor XIII, coagulation

Fibrin stabilizing factor

Fibrinase

Kalzium

Laki lorand factor

Laki-lorand factor

Stabilizing factor, fibrin

Transamidase, factor XIII

XIII, coagulation factor

Hormones

Phase 2

Anticonvulsants

Phase 2

Antipsychotic Agents

Phase 2

Sodium Channel Blockers

Phase 2

Tranquilizing Agents

Phase 2

Diuretics, Potassium Sparing

Phase 2

Antimanic Agents

Phase 2

GABA Agents

Phase 2

Calcium, Dietary

Phase 2

calcium channel blockers

Phase 2

Hematinics

Phase 2

Epoetin alfa

Phase 2

113427-24-0

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	An Open-Label Pilot Study of Desvenlafaxine for Opioid-Dependent Patients With Comorbid Depression	Completed	NCT02200406	Phase 4	Desvenlafaxine
2	A Phase IIIb, Single-arm, Open-label Multicentre Study of Olaparib Maintenance Monotherapy in Platinum Sensitive Relapsed Non-Germline BRCA Mutated Ovarian Cancer Patients Who Are in Complete or Partial Response Following Platinum Based Chemotherapy	Active, not recruiting	NCT03402841	Phase 3	Olaparib
3	A Randomized Open-Label 6 Month Acute and Maintenance Trial of Lamotrigine vs. Standard of Care Sodium Valproate Monotherapy for Treatment of Mixed Mania.	Completed	NCT00206778	Phase 2	Lamotrigine;Sodium Valproate
4	Erythropoietin as an add-on Treatment for Cognitive Side-effects of Electroconvulsive Therapy	Recruiting	NCT03339596	Phase 2	Erythropoietin;Saline
5	Mindfulness Based Cognitive Therapy for Chronic Pain and Comorbid Unipolar Depression	Unknown status	NCT01473615
6	A Randomized Controlled Study of H1-Coil rTMS for Treatment-Resistant Late-Life Depression	Completed	NCT01860157

Search NIH Clinical Center for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Cochrane evidence based reviews: hypoparathyroidism-retardation-dysmorphism syndrome

Sources

Genetic Tests for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Genetic tests related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

#	Genetic test	Affiliating Genes
1	Hypoparathyroidism Retardation Dysmorphism Syndrome ²⁹	TBCE

Sources

Anatomical Context for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

MalaCards organs/tissues related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

⁴⁰

Eye, Pituitary, Bone, Thyroid

Sources

Publications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Articles related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

(show all 50)

#	Title	Authors	PMID	Year
1	The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. ⁶ ⁵⁶ ⁶¹	Ratbi I...Sefiania A	26336027	2015
2	Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. ⁶¹ ⁵⁶ ⁶	Parvari R...HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium	12389028	2002
3	Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. ⁶¹ ⁵⁴ ⁵⁶	Padidela R...Dattani MT	19491227	2009
4	Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. ⁵⁶ ⁵⁴ ⁶¹	Courtens W...Parvari R	16470743	2006
5	Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD. ⁶	Tian G...Cowan NJ	16938882	2006
6	Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43. ⁵⁶	Kelly TE...Sakati NA	10691411	2000
7	Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. ⁵⁶	Parvari R...Carmi R	9634513	1998
8	The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients. ⁵⁶	Hershkovitz E...Gorodischer R	7538982	1995
9	Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. ⁵⁶	Marsden D...Sakati NO	7810565	1994
10	Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome. ⁵⁶	Kalam MA...Hafeez W	1395080	1992
11	A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. ⁵⁶	Sanjad SA...Milner RD	2001103	1991
12	Short stature, mental retardation, and hypoparathyroidism: a new syndrome. ⁵⁶	Richardson RJ...Kirk JM	1701077	1990
13	Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. ⁵⁴ ⁶¹	Kortazar D...Zabala JC	17184771	2007
14	Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome. ⁶¹	Golan-Tripto I...Hazan G	31205051	2020
15	Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. ⁶¹	Touati A...H'mida Ben Brahim D	30638765	2019
16	Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. ⁶¹	Aminzadeh M...Ghandil P	30080992	2018
17	A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review. ⁶¹	Ryabets-Lienhard A...Pitukcheewanont P	30055029	2018
18	Hypoparathyroidism in children: a study of eight cases. ⁶¹	Maaloul I...Hachicha M	30430523	2018
19	Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. ⁶¹	Ajarmeh SA...Al Tamimi EM	29494340	2018
20	Sanjad-Sakati Syndrome: Oral Health Care. ⁶¹	Hassona Y...Scully C	29533933	2018
21	Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series. ⁶¹	Chinoy A...Padidela R	28993435	2017
22	Anesthetic management of a case of Sanjad-Sakati syndrome. ⁶¹	Alshoaiby AN...Alsohaibani MA	27833494	2016
23	Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. ⁶¹	Anteet AM...Al-Jurayyan NA	28096557	2016
24	[Kenny-Caffey syndrome and its related syndromes]. ⁶¹	Isojima T...Kitanaka S	26619675	2015
25	Sanjad-Sakati syndrome in a Tunisian child. ⁶¹	Kerkeni E...Monastiri K	26231322	2015
26	New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. ⁶¹	Haider AS...Al-Zuhaibi S	25097779	2014
27	Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. ⁶¹	AlAyed OA	25436165	2014
28	Hypoparathyroidism-retardation-dysmorphism syndrome. ⁶¹	Kumar KJ...Mamatha S	24339556	2013
29	Status epilepticus in a child with Sanjad Sakati syndrome. ⁶¹	Prasad R...Singh UK	23378547	2013
30	Neurological manifestations in children with Sanjad-Sakati syndrome. ⁶¹	Elhassanien AF...Alghaiaty HA	23807856	2013
31	Sanjad-sakati syndrome dental management: a case report. ⁶¹	El Batawi HY	23533822	2013
32	Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). ⁶¹	Alghasab N...Khan A	23041407	2012
33	Sanjad Sakati syndrome: a case series from Jordan. ⁶¹	Albaramki J...Hamamy H	22764442	2012
34	Sanjad-Sakati Syndrome in Sudanese children. ⁶¹	Arabi WA...Abdullah MA	27493305	2011
35	Sanjad-Sakati Syndrome in Omani children. ⁶¹	Rafique B...Al-Yaarubi S	22043344	2010
36	Case report: Sanjad--Sakati syndrome: dental findings and treatment. ⁶¹	Wasersprung D...Katz J	20507815	2010
37	Sanjad-Sakati syndrome in a neonate. ⁶¹	Pal K	20519790	2010
38	Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ⁶¹	Pal K...Mitra DK	20152369	2010
39	The otolaryngologic features of Sanjad-Sakati syndrome. ⁶¹	Tanna N...Biran N	19620595	2009
40	Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. ⁶¹	Naguib KK...Alawadi SA	19554981	2009
41	Ophthalmic features of hypoparathyroidism-retardation-dysmorphism. ⁶¹	Khan AO...Al-Mesfer S	17257873	2007
42	Anesthesia management for the child with Sanjad-Sakati syndrome. ⁶¹	Platis CM...Katz J	17040310	2006
43	Native tubulin-folding cofactor E purified from baculovirus-infected Sf9 cells dissociates tubulin dimers. ⁵⁴	Kortazar D...Zabala JC	16624573	2006
44	Ophthalmic manifestations of Sanjad-Sakati syndrome. ⁶¹	Al Dhoyan N...Ozand PT	17050283	2006
45	Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets. ⁶¹	Al Tawil K...Saif SA	15852474	2005
46	Genetic diversity among the Arabs. ⁶¹	Teebi AS...Teebi SA	15767750	2005
47	Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome. ⁶¹	Hellani A...Coskun S	15065107	2004
48	The dentofacial features of Sanjad-Sakati syndrome: a case report. ⁶¹	Al-Malik MI	15005702	2004
49	Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. ⁶¹	Teebi AS	10712106	2000
50	Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement. ⁶¹	Diaz GA...Kambouris M	10377012	1999

Sources

Genes for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Genes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TBCE	Tubulin Folding Cofactor E	Protein Coding	1400.58	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Variants (show sections)	12389028 16938882 26336027 (more) 17184771 19491227 16624573 16470743
2	B3GALNT2	Beta-1,3-N-Acetylgalactosaminyltransferase 2	Protein Coding	8.65	GeneCards inferred via : Variants (show sections)
3	LCOR	Ligand Dependent Nuclear Receptor Corepressor	Protein Coding	8.39	DISEASES inferred ¹⁵ ¹⁵
4	FAM111A	Family With Sequence Similarity 111 Member A	Protein Coding	7.84	DISEASES inferred ¹⁵
5	TUBA1B	Tubulin Alpha 1b	Protein Coding	7.32	GeneCards inferred via : Publications (show sections)
6	TBCC	Tubulin Folding Cofactor C	Protein Coding	6.91	DISEASES inferred ¹⁵
7	TBCB	Tubulin Folding Cofactor B	Protein Coding	6.72	DISEASES inferred ¹⁵
8	TBCA	Tubulin Folding Cofactor A	Protein Coding	6.47	DISEASES inferred ¹⁵
9	GCM2	Glial Cells Missing Transcription Factor 2	Protein Coding	6.43	DISEASES inferred ¹⁵
10	TBCD	Tubulin Folding Cofactor D	Protein Coding	5.95	DISEASES inferred ¹⁵
11	ARL2	ADP Ribosylation Factor Like GTPase 2	Protein Coding	5.9	DISEASES inferred ¹⁵

Sources

Variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

ClinVar genetic disease variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

⁶ (show all 44) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TBCE	NM_003193.5(TBCE):c.66_67del (p.Val23fs)	deletion	Pathogenic	5291		1:235543430-235543431	1:235380115-235380116
2	TBCE	NM_003193.5(TBCE):c.1113T>A (p.Cys371Ter)	SNV	Pathogenic	5292	rs121908384	1:235600786-235600786	1:235437471-235437471
3	TBCE		deletion	Pathogenic	402240		1:235575072-235583424
4	TBCE	NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del)	deletion	Pathogenic/Likely pathogenic	5290	rs767004810	1:235564872-235564883	1:235401557-235401568
5	TBCE	NM_003193.5(TBCE):c.143_144del (p.Lys48fs)	deletion	Likely pathogenic	225483	rs758937799	1:235564860-235564861	1:235401545-235401546
6	TBCE	NM_003193.5(TBCE):c.214C>T (p.Pro72Ser)	SNV	Conflicting interpretations of pathogenicity	286377	rs62620041	1:235577776-235577776	1:235414461-235414461
7	TBCE	NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu)	SNV	Conflicting interpretations of pathogenicity	296311	rs114972093	1:235606224-235606224	1:235442909-235442909
8	TBCE	NM_003193.5(TBCE):c.1577G>A (p.Arg526Gln)	SNV	Conflicting interpretations of pathogenicity	296313	rs140662460	1:235612070-235612070	1:235448755-235448755
9	TBCE	NM_003193.5(TBCE):c.1492-14C>T	SNV	Uncertain significance	296312	rs147400126	1:235611971-235611971	1:235448656-235448656
10	TBCE	NM_003193.5(TBCE):c.422G>A (p.Cys141Tyr)	SNV	Uncertain significance	296294	rs372421061	1:235582838-235582838	1:235419523-235419523
11	TBCE	NM_003193.5(TBCE):c.1263C>G (p.Leu421=)	SNV	Uncertain significance	296309	rs199943206	1:235602230-235602230	1:235438915-235438915
12	TBCE	NM_003193.5(TBCE):c.*108A>G	SNV	Uncertain significance	296315	rs78867315	1:235612185-235612185	1:235448870-235448870
13	TBCE	NM_003193.5(TBCE):c.100+13TG[28]	short repeat	Uncertain significance	296290	rs10524346	1:235543526-235543529	1:235380211-235380214
14	TBCE	NM_003193.5(TBCE):c.100+13TG[25]	short repeat	Uncertain significance	296291	rs10524346	1:235543528-235543529	1:235380213-235380214
15	TBCE	NM_003193.5(TBCE):c.737+15C>T	SNV	Uncertain significance	296299	rs886046150	1:235597610-235597610	1:235434295-235434295
16	TBCE	NM_003193.5(TBCE):c.738-12T>A	SNV	Uncertain significance	296300	rs370888603	1:235599048-235599048	1:235435733-235435733
17	TBCE	NM_003193.5(TBCE):c.909G>A (p.Thr303=)	SNV	Uncertain significance	296302	rs202063874	1:235599869-235599869	1:235436554-235436554
18	TBCE	NM_003193.5(TBCE):c.981G>A (p.Glu327=)	SNV	Uncertain significance	296303	rs886046151	1:235600654-235600654	1:235437339-235437339
19	TBCE	NM_003193.5(TBCE):c.1050A>G (p.Glu350=)	SNV	Uncertain significance	296304	rs35663526	1:235600723-235600723	1:235437408-235437408
20	TBCE	NM_003193.5(TBCE):c.1270+4del	deletion	Uncertain significance	296310	rs774067348	1:235602241-235602241	1:235438926-235438926
21	TBCE	NM_003193.5(TBCE):c.-68G>C	SNV	Uncertain significance	296287	rs754235694	1:235530783-235530783	1:235367468-235367468
22	TBCE	NM_003193.5(TBCE):c.100+13TG[27]	short repeat	Uncertain significance	296289	rs10524346	1:235543528-235543529	1:235380213-235380214
23	TBCE	NM_003193.5(TBCE):c.460+14C>T	SNV	Uncertain significance	296295	rs143717755	1:235582890-235582890	1:235419575-235419575
24	TBCE	NM_003193.5(TBCE):c.847A>T (p.Ile283Phe)	SNV	Uncertain significance	193652	rs200022583	1:235599714-235599714	1:235436399-235436399
25	TBCE	NM_003193.5(TBCE):c.737+11C>T	SNV	Uncertain significance	296298	rs181223923	1:235597606-235597606	1:235434291-235434291
26	TBCE	NM_003193.5(TBCE):c.808C>T (p.Leu270=)	SNV	Uncertain significance	296301	rs200169233	1:235599130-235599130	1:235435815-235435815
27	TBCE	NM_003193.5(TBCE):c.1253A>G (p.Tyr418Cys)	SNV	Uncertain significance	296308	rs750744949	1:235602220-235602220	1:235438905-235438905
28	TBCE	NM_003193.5(TBCE):c.60_62dup	duplication	Uncertain significance	296314	rs886046152	1:235612137-235612139	1:235448822-235448824
29	TBCE	NM_003193.5(TBCE):c.*177T>C	SNV	Uncertain significance	296317	rs886046153	1:235612254-235612254	1:235448939-235448939
30	TBCE	NM_003193.5(TBCE):c.-92C>G	SNV	Uncertain significance	296286	rs886046147	1:235530759-235530759	1:235367444-235367444
31	TBCE	NM_003193.5(TBCE):c.253A>G (p.Ile85Val)	SNV	Uncertain significance	282068	rs143886167	1:235577815-235577815	1:235414500-235414500
32	TBCE	NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)	SNV	Uncertain significance	282266	rs143917509	1:235611729-235611729	1:235448414-235448414
33	TBCE	NM_003193.5(TBCE):c.100+15T>G	SNV	Uncertain significance	296293	rs886046149	1:235543479-235543479	1:235380164-235380164
34	TBCE	NM_003193.5(TBCE):c.1125C>T (p.Pro375=)	SNV	Uncertain significance	296306	rs762683460	1:235602092-235602092	1:235438777-235438777
35	TBCE	NM_003193.5(TBCE):c.100+1G>A	SNV	Uncertain significance	631595	rs200356271	1:235543465-235543465	1:235380150-235380150
36	TBCE	NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly)	SNV	Likely benign	296307	rs16832619	1:235602193-235602193	1:235438878-235438878
37	TBCE	NM_003193.5(TBCE):c.-49T>C	SNV	Likely benign	296288	rs55980101	1:235530802-235530802	1:235367487-235367487
38	TBCE	NM_003193.5(TBCE):c.998G>C (p.Ser333Thr)	SNV	Likely benign	235262	rs35579976	1:235600671-235600671	1:235437356-235437356
39	TBCE	NM_003193.5(TBCE):c.614T>C (p.Val205Ala)	SNV	Likely benign	296297	rs16832611	1:235594073-235594073	1:235430758-235430758
40	TBCE	NM_003193.5(TBCE):c.-93T>A	SNV	Likely benign	296285	rs114193373	1:235530758-235530758	1:235367443-235367443
41	TBCE	NM_003193.5(TBCE):c.1068A>G (p.Leu356=)	SNV	Likely benign	296305	rs6666168	1:235600741-235600741	1:235437426-235437426
42	TBCE	NM_003193.5(TBCE):c.100+13T>G	SNV	Likely benign	296292	rs199696216	1:235543477-235543477	1:235380162-235380162
43	TBCE	NM_003193.5(TBCE):c.*142T>A	SNV	Benign	296316	rs7537	1:235612219-235612219	1:235448904-235448904
44	TBCE	NM_003193.5(TBCE):c.560+5G>A	SNV	Benign	296296	rs12757197	1:235590559-235590559	1:235427244-235427244

Sources

Expression for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Search GEO for disease gene expression data for Hypoparathyroidism-Retardation-Dysmorphism Syndrome.

Sources

Pathways for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Pathways related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	13.18	TUBA1B TBCE TBCD TBCC TBCB TBCA
2	Chaperonin-mediated protein folding ⁶⁵ Show member pathways Association of TriC/CCT with target proteins during biosynthesis ⁶⁵ Protein folding ⁶⁵	11.89	TUBA1B TBCE TBCD TBCC TBCB TBCA
3	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding ⁶⁵ Show member pathways Folding of actin by CCT/TriC ⁶⁵ Formation of tubulin folding intermediates by CCT/TriC ⁶⁵ Post-chaperonin tubulin folding pathway ⁶⁵ Prefoldin mediated transfer of substrate to CCT/TriC ⁶⁵	11.25	TUBA1B TBCE TBCD TBCC TBCB TBCA

Sources

GO Terms for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Cellular components related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.5	TUBA1B TBCE TBCD TBCC TBCB TBCA
2	microtubule cytoskeleton	GO:0015630	9.46	TUBA1B TBCB TBCA ARL2
3	lateral plasma membrane	GO:0016328	9.26	TBCD ARL2
4	microtubule	GO:0005874	9.1	TUBA1B TBCE TBCD TBCC TBCB TBCA

Biological processes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein folding	GO:0006457	9.46	TBCE TBCD TBCC TBCA
2	microtubule cytoskeleton organization	GO:0000226	9.43	TUBA1B TBCE TBCD
3	bicellular tight junction assembly	GO:0070830	9.32	TBCD ARL2
4	post-chaperonin tubulin folding pathway	GO:0007023	9.26	TBCE TBCD TBCC TBCA
5	tubulin complex assembly	GO:0007021	9.02	TBCE TBCD TBCC TBCA ARL2

Molecular functions related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GTPase activity	GO:0003924	9.43	TUBA1B TBCC ARL2
2	tubulin binding	GO:0015631	9.16	TBCC TBCA
3	beta-tubulin binding	GO:0048487	8.96	TBCD TBCA
4	chaperone binding	GO:0051087	8.92	TBCE TBCD TBCC TBCA

Sources

Sources for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRDS)

Aliases & Classifications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

MalaCards integrated aliases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Related Diseases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Symptoms & Phenotypes for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Human phenotypes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

GenomeRNAi Phenotypes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Drugs for Hypoparathyroidism-Retardation-Dysmorphism Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: hypoparathyroidism-retardation-dysmorphism syndrome

Genetic Tests for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Genetic tests related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Anatomical Context for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

MalaCards organs/tissues related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Publications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Articles related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Genes for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Genes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome (1 elite genes):

Variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

ClinVar genetic disease variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Expression for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Pathways for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Pathways related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

GO Terms for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Cellular components related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

Sources for Hypoparathyroidism-Retardation-Dysmorphism Syndrome