Delayed speech and language development, and Hyperinsulinemia

Diseases related with Delayed speech and language development and Hyperinsulinemia

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Hyperinsulinemia that can help you solving undiagnosed cases.


Top matches:

Medium match SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY

Related symptoms:

  • Short stature
  • Delayed speech and language development
  • Obesity
  • Aggressive behavior
  • Hyperinsulinemia


SOURCES: ORPHANET

More info about SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY

Medium match ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD

Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance (summary by Guillen-Navarro et al., 2013).

ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD Is also known as ;severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MONDO UMLS

More info about ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD

Medium match SCHAAF-YANG SYNDROME; SHFYNG

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

SCHAAF-YANG SYNDROME; SHFYNG Is also known as prader-willi-like syndrome;pwls;pws due to a point mutation; schaaf-yang syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET UMLS MONDO GARD

More info about SCHAAF-YANG SYNDROME; SHFYNG

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Other less relevant matches:

Medium match PRADER-WILLI SYNDROME; PWS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM

More info about PRADER-WILLI SYNDROME; PWS

Medium match OBESITY DUE TO SIM1 DEFICIENCY

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Obesity
  • Attention deficit hyperactivity disorder
  • Autistic behavior


SOURCES: ORPHANET

More info about OBESITY DUE TO SIM1 DEFICIENCY

Medium match TENORIO SYNDROME; TNORS

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO UMLS OMIM

More info about TENORIO SYNDROME; TNORS

Medium match HYPERINSULINISM DUE TO UCP2 DEFICIENCY

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Coma


SOURCES: ORPHANET

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

Medium match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Medium match AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency; dominant katp hyperinsulinism due to kir6.2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

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


SOURCES: UMLS OMIM

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Hyperinsulinemia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Hyperinsulinemic hypoglycemia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Hyperinsulinemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Vitamin B1 deficiency Hypoglycemia Hyperhidrosis Scoliosis Intellectual disability Hepatomegaly Vomiting Obesity Polyphagia Coma Sleep disturbance Apnea Generalized hypotonia Insulin resistance Diarrhea Pallor Lethargy Tachycardia Progressive neurologic deterioration Agitation Large for gestational age Neonatal hypoglycemia Drowsiness Hypoketotic hypoglycemia Pancreatic islet-cell hyperplasia Secondary growth hormone deficiency Abnormality of fatty-acid metabolism Microcephaly Motor delay

Rare Symptoms - Less than 30% cases


Thick eyebrow Autistic behavior Tapered finger Short foot Neonatal hypotonia Myopathy Autism Hypogonadism Mandibular prognathia Clinodactyly Micropenis Polyhydramnios Kyphosis Esotropia Short nose Talipes equinovarus Small hand Narrow palm Decreased fetal movement Attention deficit hyperactivity disorder Abnormal brain FDG positron emission tomography Decreased circulating cortisol level Wide nose Clumsiness Primary amenorrhea Amenorrhea Delayed puberty Osteopenia Narrow forehead Ventriculomegaly Short neck Temperature instability Hypoventilation Failure to thrive in infancy Sleep apnea Increased body weight Poor suck Anteverted nares Osteoporosis Myopia Pain Micrognathia Coarse facial features Strabismus Hyperactivity Abnormal facial shape Hypertension Autosomal dominant inheritance Cryptorchidism Respiratory tract infection Nevus Feeding difficulties Autosomal recessive inheritance Myeloid leukemia Overweight Hypoplasia of the fovea Abnormality of lipid metabolism Iris hypopigmentation Acrocyanosis Central hypotonia Striae distensae Ocular albinism Hypothermia Oligomenorrhea Chromosome breakage Narrow nasal bridge Intestinal bleeding Labial hypoplasia Generalized hypopigmentation Cor pulmonale Frontal upsweep of hair Anteverted ears Abdominal obesity Clitoral hypoplasia Poor fine motor coordination Erysipelas Triangular mouth Impaired pain sensation Glucose intolerance Hypopigmentation of hair Precocious puberty Ranula Cutaneous photosensitivity Abnormality of the cardiovascular system Developmental regression Cyanosis Aortic valve stenosis Bradycardia Hypogonadotrophic hypogonadism Bicuspid aortic valve Nasal speech Narrow palpebral fissure Emotional lability Inflammation of the large intestine Radial deviation of finger Scrotal hypoplasia Albinism Large hands Skeletal muscle hypertrophy Disseminated intravascular coagulation Decreased muscle mass Adrenal insufficiency Infantile muscular hypotonia Truncal obesity External genital hypoplasia Psychotic episodes Memory impairment Central adrenal insufficiency Encephalopathy Keratoconjunctivitis sicca Raynaud phenomenon Large forehead Recurrent aphthous stomatitis Stomatitis Hypoinsulinemia Abnormal pyramidal sign Respiratory failure Gait ataxia Myoclonus Progressive Cerebral atrophy Delayed cranial suture closure Dystonia Hypertonia Cerebellar atrophy Tremor Hyperreflexia Acidosis Joint laxity Absence seizures Maternal diabetes Ketoacidosis Dorsocervical fat pad Keratitis Cerebral palsy Hypopnea Gait disturbance Hypoplastic labia minora Almond-shaped palpebral fissure Poor gross motor coordination Acromicria Hypotension Type II diabetes mellitus Abnormal autonomic nervous system physiology Abnormal glucose tolerance Clonus Postural hypotension with compensatory tachycardia Macrocephaly Hydrocephalus Conjunctivitis Pneumonia Cerebral cortical atrophy Oxycephaly Gastroesophageal reflux Telecanthus Anxiety Mental deterioration Macroglossia Hypertrichosis Syncope Overgrowth Psychosis Hepatic steatosis Hypopigmentation of the skin Pterygium Open mouth Exotropia Microretrognathia Adducted thumb Trigonocephaly Progressive encephalopathy Akinesia Limb dystonia Brisk reflexes Reduced subcutaneous adipose tissue Limited elbow extension Impulsivity Loss of speech Short humerus Acanthosis nigricans Misalignment of teeth Fetal akinesia sequence Generalized hirsutism Hyperventilation Excessive salivation Abnormality of the philtrum Status epilepticus Multiple pterygia Hypertriglyceridemia Intermittent hyperventilation Short palpebral fissure Generalized lipodystrophy Growth delay Ptosis Frontal bossing Infantile onset High palate Respiratory insufficiency Flexion contracture Respiratory distress Depressivity Constipation Retrognathia Absent speech Cleft palate No social interaction Progressive psychomotor deterioration Impaired social interactions Hypertelorism Wide mouth Hyperlordosis Camptodactyly Arthrogryposis multiplex congenita Ataxia Smooth philtrum Talipes Reduced intraabdominal adipose tissue Caudate atrophy Poor motor coordination Pica Nystagmus Hip dysplasia Arachnodactyly Abnormality of the pinna Abnormality of the nervous system Gliosis Dolichocephaly Pruritus Cirrhosis Genu valgum Carious teeth Short palm Polymicrogyria Hypermetropia Downturned corners of mouth Sporadic Stroke Leukemia Infertility Sepsis Full cheeks Febrile seizures Spontaneous abortion Gastrointestinal hemorrhage Specific learning disability Brachydactyly Oligohydramnios Growth hormone deficiency Weight loss Thin upper lip vermilion Failure to thrive Abnormality of the dentition Muscular hypotonia Milia Depressed nasal bridge Neoplasm Epicanthus Intrauterine growth retardation Tics Tetraparesis Edema Fever Intellectual disability, severe Intellectual disability, mild Behavioral abnormality Photophobia Aggressive behavior Congestive heart failure Hyporeflexia Syndactyly Dilatation Recurrent respiratory infections Upslanted palpebral fissure Spasticity Narrow mouth Diabetes mellitus Prominent forehead Neuronal loss in central nervous system Delayed thelarche



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