Neoplasm, and Intellectual disability

Diseases related with Neoplasm and Intellectual disability

In the following list you will find some of the most common rare diseases related to Neoplasm and Intellectual disability that can help you solving undiagnosed cases.


Top matches:

Low match X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as x-linked non-specific intellectual disability

Related symptoms:

  • Intellectual disability


SOURCES: SCTID ORPHANET UMLS

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability


SOURCES: MONDO OMIM UMLS

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56

Low match GLUTATHIONURIA

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GLUTATHIONURIA Is also known as gamma-glutamyltranspeptidase deficiency, ggt deficiency, gtg deficiency, gamma-glutamyltransferase deficiency;glutathionuria

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Abnormality of metabolism/homeostasis


SOURCES: UMLS GARD ORPHANET MESH MONDO SCTID OMIM

More info about GLUTATHIONURIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED 96; MRX96

Related symptoms:

  • Intellectual disability
  • Seizures
  • X-linked dominant inheritance


SOURCES: MONDO UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED 96; MRX96

Low match EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1

Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life ({9,8:Scheffer et al., 1994, 1995}). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997). Genetic Heterogeneity of Nocturnal Frontal Lobe EpilepsyNocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (OMIM ), which maps to chromosome 15q24; ENFL3 (OMIM ), caused by mutation in the CHRNB2 gene (OMIM ) on chromosome 1q21; ENFL4 (OMIM ), caused by mutation in the CHRNA2 gene (OMIM ) on chromosome 8p21; and ENFL5 (OMIM ), caused by mutation in the KCNT1 gene (OMIM ) on chromosome 9q34.Nocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF ), caused by mutation in the DEPDC5 gene (OMIM ) on chromosome 22q12.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Focal seizures
  • Childhood onset


SOURCES: MONDO MESH UMLS DOID OMIM

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Nevus


SOURCES: UMLS OMIM MONDO GARD

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18

Low match HSD10 DISEASE, ATYPICAL TYPE

HSD10 disease, atypical type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Manifestations may be variable and may be characterized by intellectual disability, choreoathetosis and/or behavior disorders (aggressiveness, agitation, hallucinations, automutilation), as well as pre- and postnatal growth retardation, microcephaly and/or speech impairment. Severe ketoacidosis and elevated urinary excretion of isoleucine metabolites are reported.

HSD10 DISEASE, ATYPICAL TYPE Is also known as hsd10 deficiency, atypical type; syndromic x-linked intellectual disability type 10; x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

Related symptoms:

  • Intellectual disability
  • Behavioral abnormality
  • Abnormality of movement


SOURCES: UMLS MONDO MESH DOID ORPHANET

More info about HSD10 DISEASE, ATYPICAL TYPE

Low match SECKEL SYNDROME 6; SCKL6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about SECKEL SYNDROME 6; SCKL6

Top 5 symptoms//phenotypes associated to Neoplasm and Intellectual disability

Symptoms // Phenotype % cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Rare - less than 30% cases
Motor delay Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Neoplasm and Intellectual disability. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Short stature Cerebral cortical atrophy Abnormality of movement Nevus Behavioral abnormality Auras Childhood onset Focal seizures Autosomal dominant inheritance X-linked dominant inheritance Abnormality of metabolism/homeostasis Delayed speech and language development



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other signs and symptoms that you may find interesting

Microphthalmia and Attention deficit hyperactivity disorder, related diseases and genetic alterations Intellectual disability, severe and Small for gestational age, related diseases and genetic alterations Visual impairment and Alopecia, related diseases and genetic alterations Pain and Ventriculomegaly, related diseases and genetic alterations Muscle weakness and Hernia, related diseases and genetic alterations Microcephaly and Stage 5 chronic kidney disease, related diseases and genetic alterations Carcinoma and Poor speech, related diseases and genetic alterations